Rubinstein-Taybi Syndrome

Mental Retardation

Speech difficulties

Broad thumbs and toes, often medially deviated

Abnormal ERG (78%)

Decreased Cone or Cone & Rod response

Abnormal VEP (60%)

Strabismus (70%)

Refractive Error (50%)

NLD obstruction (40%)

Ptosis (35%)

Glaucoma (35%)

Coloboma (25%)

Congenital Cataract (25%)

High Myopia (10%)

Optic atrophy/disc abnormalities (10%)

Chorioretinal Dystrophy (5%)

Microphthalmia (5%)

Nystagmus (4%)

Ectopia Lentis (<1%)

1/100,000 newborns

Autosomal Dominant

Many from Chromosome 16p13.3 microdeletions or mutation in gene for CREB binding protein found in this area (19%)

Also 22q13: E1A binding protein

Postnatal growth retardation

Males 153 cm average

Females 147 cm average

Microcephaly

Agenesis of Corpus Callosum

Seizures

Hypoplastic maxilla, micrognathia

Beaked nose, deviated septum

PDA, ASD, VSD

Capillary Hemangiomas

Sternal anomalies

Hypospadias, Cryptorchidism

Hirsutism

Spina Bifida

Syndactyly, Polydactyly

Keloid formation

OMIM #180849

Wright, Spiegel eds. Pediatric Ophthalmology and Strabismsus 2nd ed. p 1051

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. van Genderen MM et al. BJO 2000 Oct;84(10):1177-84 (photo)

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management